Canonical Allele Identifier: CA825408

Gene: UROD

Linked Data

• dbSNP Id: rs753164437
• ExAC: 1:45481073 A / G
• gnomAD v2: 1-45481073-A-G
• gnomAD v3: 1-45015401-A-G
• gnomAD v4: 1-45015401-A-G
• MyVariant Identifiers: chr1:g.45481073A>G (hg19) ; chr1:g.45015401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015401A>G , CM000663.2:g.45015401A>G	GRCh38
NC_000001.10:g.45481073A>G , CM000663.1:g.45481073A>G	GRCh37
NC_000001.9:g.45253660A>G	NCBI36
NG_007122.2:g.8244A>G
NG_033058.1:g.955T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1007A>G MANE Select	ENSP00000246337.4:p.Asn336Ser
ENST00000491773.6:c.764A>G	ENSP00000498551.1:p.Asn255Ser
ENST00000636293.1:c.869A>G	ENSP00000490710.1:p.Asn290Ser
ENST00000636836.1:c.*43A>G	ENSP00000490594.1:n.*43A>G
ENST00000651476.1:c.902A>G	ENSP00000498668.1:p.Asn301Ser
ENST00000652165.1:c.764A>G	ENSP00000498295.1:p.Asn255Ser
ENST00000652287.1:c.944A>G	ENSP00000498413.1:p.Asn315Ser
ENST00000652514.1:c.968A>G	ENSP00000498635.1:n.968A>G
ENST00000246337.8:c.1007A>G	ENSP00000246337.4:p.Asn336Ser
ENST00000465678.1:n.752A>G
ENST00000472254.1:n.760A>G
ENST00000494399.5:n.1674A>G
NM_000374.4:c.1007A>G	NP_000365.3:p.Asn336Ser
NR_036510.1:n.1190A>G
XM_005271169.1:c.791A>G	XP_005271226.1:p.Asn264Ser
XM_005271170.1:c.791A>G	XP_005271227.1:p.Asn264Ser
XM_011542080.1:c.944A>G	XP_011540382.1:p.Asn315Ser
XM_011542081.1:c.839A>G	XP_011540383.1:p.Asn280Ser
NM_000374.5:c.1007A>G MANE Select	NP_000365.3:p.Asn336Ser
NR_158184.1:n.1088A>G
NR_158185.1:n.1038A>G
NR_036510.2:n.1069A>G